Meckel gruber syndrome: report of two cases with review of literature

dc.contributor.author	Myageri, Aneel
dc.contributor.author	Grampurohit, Vandana U.
dc.contributor.author	Rao, Ravikala V.
dc.date.accessioned	2016-09-28T05:54:26Z
dc.date.available	2016-09-28T05:54:26Z
dc.date.issued	2013-01
dc.identifier.citation	Journal of Family Medicine and Primary Care . 2013 Jan; 2(1): 106-108.	en_US
dc.identifier.issn	2249-4863, 2278-7135
dc.identifier.uri	http://localhost:8080/xmlui/handle/123456789/814
dc.description.abstract	Meckel Gruber syndrome (MKS) is a lethal, autosomal, recessive, multisystemic disorder, associated with mutations affecting ciliogenesis. Since the time it was first reported; only 200 cases have been reported. From January 2004 to December 2010, we evaluated 268 fetal autopsies in our institute, in the Department of Pathology; two of these fetuses were diagnosed as MKS. MKS is characterized by occipital meningoencephalocele, cystic kidneys, postaxial polydactyly, and fibrosis in the liver. MKS cases show genetic heterogeneity. MKS results in 100% fetal or neonatal mortality. As MKS has a high risk (25%) of recurrence; parents should be counseled for future pregnancies.	en_US
dc.language.iso	en	en_US
dc.publisher	Wolters Kluwer-Medknow	en_US
dc.subject	Autopsy	en_US
dc.subject	Fetal mortality	en_US
dc.subject	Meckel gruber syndrome	en_US
dc.title	Meckel gruber syndrome: report of two cases with review of literature	en_US
dc.type	Article	en_US